I11S (p.Ile11Ser) variant of CDKN2A (Tumor suppressor ARF)
I11S (p.Ile11Ser) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
I11S (p.Ile11Ser) variant details
- p.Ile11Ser
- rs1820535713
- ClinGen CA373087077
- ClinVar RCV001990203
- Ensembl rs1820535713
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.87
- MetaLR 0.58
- MetaSVM -0.26
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)